NM_001003722.2(GLE1):c.2051T>C (p.Ile684Thr) AND Lethal arthrogryposis-anterior horn cell disease syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2008
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006836.5
Allele description [Variation Report for NM_001003722.2(GLE1):c.2051T>C (p.Ile684Thr)]
NM_001003722.2(GLE1):c.2051T>C (p.Ile684Thr)
Condition(s)
-
Homologene neighbors for GEO Profiles (Select 17197328) (0)
GEO Profiles
-
BioSample Links for BioProject (Select 421514) (24)
BioSample
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Last Updated: Oct 14, 2023